xeroderma pigmentosum group F

info · Syndrome · ICD-10: Q82.1

A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

Signs and symptoms

Erythema
Freckling
Deficient excision of UV-induced pyrimidine dimers in DNA
Defective DNA repair after ultraviolet radiation damage
Seborrheic keratosis
Numerous pigmented freckles
Cutaneous photosensitivity
Basal cell carcinoma
Papule
Decreased body weight

Also known as: XP group F; XP6; XPF; xeroderma pigmentosum VI